Analysis of European mtDNAs for recombination

Am J Hum Genet. 2001 Jan;68(1):145-153. doi: 10.1086/316938. Epub 2000 Dec 11.


The standard paradigm postulates that the human mitochondrial genome (mtDNA) is strictly maternally inherited and that, consequently, mtDNA lineages are clonal. As a result of mtDNA clonality, phylogenetic and population genetic analyses should therefore be free of the complexities imposed by biparental recombination. The use of mtDNA in analyses of human molecular evolution is contingent, in fact, on clonality, which is also a condition that is critical both for forensic studies and for understanding the transmission of pathogenic mtDNA mutations within families. This paradigm, however, has been challenged recently by Eyre-Walker and colleagues. Using two different tests, they have concluded that recombination has contributed to the distribution of mtDNA polymorphisms within the human population. We have assembled a database that comprises the complete sequences of 64 European and 2 African mtDNAs. When this set of sequences was analyzed using any of three measures of linkage disequilibrium, one of the tests of Eyre-Walker and colleagues, there was no evidence for mtDNA recombination. When their test for excess homoplasies was applied to our set of sequences, only a slight excess of homoplasies was observed. We discuss possible reasons that our results differ from those of Eyre-Walker and colleagues. When we take the various results together, our conclusion is that mtDNA recombination has not been sufficiently frequent during human evolution to overturn the standard paradigm.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • DNA, Mitochondrial / genetics*
  • Databases as Topic
  • Europe
  • Evolution, Molecular*
  • Haplotypes / genetics
  • Humans
  • Linkage Disequilibrium / genetics
  • Mitochondria / genetics*
  • Phylogeny
  • Polymorphism, Restriction Fragment Length
  • Recombination, Genetic / genetics*
  • Reproducibility of Results
  • Sensitivity and Specificity


  • DNA, Mitochondrial